Protect Your Baby’s Future: Early Detection of CPT2 Deficiency
As parents, we understand the overwhelming concern you feel when considering potential health risks for your precious baby. The CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency test provides the clarity and peace of mind every South African family deserves. This advanced genetic screening identifies a serious metabolic condition that, when detected early, can be effectively managed to ensure your child thrives and grows normally.
Understanding CPT2 Deficiency: What This Test Reveals
Carnitine palmitoyltransferase 2 deficiency is a rare inherited disorder that affects how your baby’s body converts fats into energy. Think of it as a metabolic roadblock – when your child needs energy during illness or fasting, their body struggles to access stored fat reserves, potentially leading to dangerous metabolic crises. Our NGS (Next Generation Sequencing) technology examines the CPT2 gene with exceptional accuracy, identifying mutations that could impact your child’s health and development.
Is This Test Right for Your Family?
This test is particularly important if your baby shows symptoms like:
- Unexplained muscle weakness or low muscle tone
- Feeding difficulties or poor weight gain
- Episodes of lethargy or unusual sleepiness
- Liver enlargement or abnormal liver function
- Family history of metabolic disorders or sudden infant death
- Recurrent low blood sugar episodes
Even without symptoms, families with a known history of metabolic disorders benefit from this proactive screening.
Why Early Detection Matters for Your Child’s Health
Early diagnosis transforms outcomes for children with CPT2 deficiency. With proper management, children can lead healthy, active lives. The benefits include:
- Prevention of metabolic crises that can cause brain damage
- Customised dietary plans to ensure proper energy supply
- Reduced hospitalisations and emergency situations
- Peace of mind knowing your child’s specific needs
- Informed family planning for future pregnancies
Understanding Your Results: Clear Guidance Every Step
We understand that waiting for genetic test results can be anxiety-provoking. Our process includes comprehensive genetic counselling before and after testing. Your results will clearly indicate:
- Whether CPT2 gene mutations were detected
- The specific type of mutation and its implications
- Personalised management recommendations
- Follow-up testing options if needed
- Resources for ongoing support and care
Our genetic counsellors explain everything in plain language, ensuring you feel confident and supported throughout the journey.
Investment in Your Child’s Health: Transparent Pricing
| Service | Regular Price | Special Price | Value |
|---|---|---|---|
| CPT2 Deficiency NGS Genetic Test | ZAR 9,350 | ZAR 6,700 | Save ZAR 2,650 |
| Genetic Counselling Session | Included at no extra cost | ||
| Family Pedigree Analysis | Included at no extra cost | ||
| Results Interpretation | Included at no extra cost | ||
Turnaround time: 3-4 weeks | Sample: Blood, Extracted DNA, or Blood on FTA Card
Why South African Families Trust Oracle Genomics
We’ve built our reputation on accuracy, compassion, and accessibility:
- Nationwide Coverage: Serving families across South Africa including Johannesburg, Cape Town, Durban, and Pretoria
- Advanced Technology: State-of-the-art NGS testing with 99.9% accuracy
- Expert Genetic Counsellors: South African-trained professionals who understand local healthcare needs
- Complete Support: From initial consultation to results interpretation
- Proven Track Record: Thousands of satisfied families across the country
Take the First Step Toward Peace of Mind
Don’t let uncertainty about your baby’s health create unnecessary stress. Early detection through genetic testing provides the knowledge you need to protect your child’s future. Our team is ready to support your family with compassion and expertise.
Limited Time Offer: Special pricing of ZAR 6,700 available for the next 30 days. Don’t miss this opportunity to invest in your child’s health at significant savings.
